HSD3B7 Chromosome 16
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
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What This Gene Does
This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000099377
Associated Conditions (4)
HSD3B7-related disorder
Congenital bile acid synthesis defect 1
Inborn genetic diseases
Congenital bile acid synthesis defect
Key Variants
RS1343784849
Conflicting classifications of pathogenicity
Health Risk
RS139152685
Conflicting classifications of pathogenicity
Health Risk
RS143699328
Conflicting classifications of pathogenicity
Health Risk
RS147510106
Conflicting classifications of pathogenicity
HSD3B7-related disorder, Congenital bile acid synthesis defect 1, Inborn genetic diseases
Health Risk
RS200555135
Conflicting classifications of pathogenicity
Health Risk
RS201111173
Conflicting classifications of pathogenicity
Health Risk
RS746884533
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
Health Risk
RS746926891
Conflicting classifications of pathogenicity
HSD3B7-related disorder, HSD3B7-related disorder
Health Risk
RS750739758
Conflicting classifications of pathogenicity
Health Risk
RS760192112
Conflicting classifications of pathogenicity
HSD3B7-related disorder, Congenital bile acid synthesis defect 1, HSD3B7-related disorder
Health Risk
RS886044435
Conflicting classifications of pathogenicity
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
Health Risk
RS2056470234
Likely pathogenic
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1343784849 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139152685 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143699328 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147510106 | Health Risk | Conflicting classifications of pathogenicity | HSD3B7-related disorder, Congenital bile acid synthesis defect 1, Inborn genetic diseases |
| RS200555135 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201111173 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS746884533 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS746926891 | Health Risk | Conflicting classifications of pathogenicity | HSD3B7-related disorder, HSD3B7-related disorder |
| RS750739758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760192112 | Health Risk | Conflicting classifications of pathogenicity | HSD3B7-related disorder, Congenital bile acid synthesis defect 1, HSD3B7-related disorder |
| RS886044435 | Health Risk | Conflicting classifications of pathogenicity | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS2056470234 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS2543933911 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS2543935124 | Health Risk | Likely pathogenic | — |
| RS387906288 | Health Risk | Likely pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS755245061 | Health Risk | Likely pathogenic | — |
| RS775260292 | Health Risk | Likely pathogenic | HSD3B7-related disorder, HSD3B7-related disorder |
| RS775934717 | Health Risk | Likely pathogenic | HSD3B7-related disorder, Congenital bile acid synthesis defect 1, HSD3B7-related disorder |
| RS104894518 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS1555492659 | Health Risk | Pathogenic | — |
| RS1567370784 | Health Risk | Pathogenic | — |
| RS1567371518 | Health Risk | Pathogenic | — |
| RS2143641088 | Health Risk | Pathogenic | — |
| RS2543936346 | Health Risk | Pathogenic | — |
| RS376562345 | Health Risk | Pathogenic | — |
| RS397514442 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS397514443 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS530793570 | Health Risk | Pathogenic | — |
| RS786200876 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 1, HSD3B7-related disorder, Congenital bile acid synthesis defect |
| RS786205627 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS886043511 | Health Risk | Pathogenic | HSD3B7-related disorder, HSD3B7-related disorder |
| RS560826820 | Health Risk | Pathogenic/Likely pathogenic | Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |